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AGL Gene

protein-coding   GIFtS: 67
GCID: GC01P100315

Amylo-Alpha-1, 6-Glucosidase, 4-Alpha-Glucanotransferase

(Previous names: amylo-1, 6-glucosidase, 4-alpha-glucanotransferase)
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Amylo-Alpha-1, 6-Glucosidase, 4-Alpha-Glucanotransferase1 2
GDE2 3 5
Amylo-1, 6-Glucosidase, 4-Alpha-Glucanotransferase1 2
Glycogen Debranching Enzyme1 2
Glycogen Debrancher2 3
Glycogen Storage Disease Type III1

External Ids:    HGNC: 3211   Entrez Gene: 1782   Ensembl: ENSG000001626887   OMIM: 6108605   UniProtKB: P355733   

Export aliases for AGL gene to outside databases

Previous GC identifers: GC01P101113 GC01P099441 GC01P099606 GC01P099778 GC01P100027 GC01P100088 GC01P098438


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for AGL Gene:
This gene encodes the glycogen debrancher enzyme which is involved in glycogen degradation. This enzyme has two
independent catalytic activities which occur at different sites on the protein: a 4-alpha-glucotransferase
activity and a amylo-1,6-glucosidase activity. Mutations in this gene are associated with glycogen storage
disease although a wide range of enzymatic and clinical variability occurs which may be due to tissue-specific
alternative splicing. Alternatively spliced transcripts encoding different isoforms have been described.
(provided by RefSeq, Jul 2008)

GeneCards Summary for AGL Gene:
AGL (amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase) is a protein-coding gene. Diseases associated with AGL include glycogen storage disease iiib, and glycogen storage disease iiia. GO annotations related to this gene include glycogen debranching enzyme activity and polyubiquitin binding.

UniProtKB/Swiss-Prot: GDE_HUMAN, P35573
Function: Multifunctional enzyme acting as 1,4-alpha-D-glucan:1,4-alpha-D-glucan 4-alpha-D-glycosyltransferase and
amylo-1,6-glucosidase in glycogen degradation

Gene Wiki entry for AGL (Glycogen debranching enzyme) Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000001.11  NT_032977.10  NC_018912.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the AGL gene promoter:
         STAT3   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidAGL promoter sequence
   Search Chromatin IP Primers for AGL

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat AGL


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 1p21   Ensembl cytogenetic band:  1p21.2   HGNC cytogenetic band: 1p21

AGL Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
AGL gene location

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01P100315:  view genomic region     (about GC identifiers)

Start:
100,315,640 bp from pter      End:
100,389,579 bp from pter
Size:
73,940 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: GDE_HUMAN, P35573 (See protein sequence)
Recommended Name: Glycogen debranching enzyme  
Size: 1532 amino acids; 174764 Da
Subunit: Monomer. Interacts with NHLRC1/malin
Sequence caution: Sequence=BAD92104.1; Type=Erroneous initiation;
Secondary accessions: A6NCX7 A6NEK2 D3DT51 P78354 P78544 Q59H92 Q6AZ90 Q9UF08
Alternative splicing: 3 isoforms:  P35573-1   P35573-2   P35573-3   (Ref.2 (AAB48470) sequence is in conflict in position: 4:I->L)

Explore the universe of human proteins at neXtProt for AGL: NX_P35573

Explore proteomics data for AGL at MOPED

Post-translational modifications: 

  • The N-terminus is blocked1
  • Ubiquitinated1
  • Ubiquitination2 at Lys679, Lys875
  • Modification sites at PhosphoSitePlus

  • See AGL Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (6 alternative transcripts): 
    NP_000019.2  NP_000633.2  NP_000634.2  NP_000635.2  NP_000636.2  NP_000637.2  

    ENSEMBL proteins: 
     ENSP00000355106   ENSP00000359184   ENSP00000359182   ENSP00000294724   ENSP00000354971  
     ENSP00000354635   ENSP00000359180  
    Reactome Protein details: P35573

    AGL Human Recombinant Protein Products:

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    Novus Biologicals AGL Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
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    Cloud-Clone Corp. Proteins for AGL

    AGL Antibody Products:

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    LSBio Antibodies in human, mouse, rat for AGL

    AGL Assay Products:

    Browse Kits and Assays available from EMD Millipore
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    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for AGL
    Cloud-Clone Corp. CLIAs for AGL


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    5 InterPro protein domains:
     IPR006421 Glycogen_debranch_met
     IPR017853 Glycoside_hydrolase_SF
     IPR013781 Glyco_hydro_catalytic_dom
     IPR010401 AGL/Gdb1
     IPR008928 6-hairpin_glycosidase-like

    Graphical View of Domain Structure for InterPro Entry P35573

    ProtoNet protein and cluster: P35573

    UniProtKB/Swiss-Prot: GDE_HUMAN, P35573
    Similarity: Belongs to the glycogen debranching enzyme family


    AGL for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: GDE_HUMAN, P35573
    Function: Multifunctional enzyme acting as 1,4-alpha-D-glucan:1,4-alpha-D-glucan 4-alpha-D-glycosyltransferase and
    amylo-1,6-glucosidase in glycogen degradation
    Catalytic activity: Transfers a segment of a (1->4)-alpha-D-glucan to a new position in an acceptor, which may be
    glucose or a (1->4)-alpha-D-glucan
    Catalytic activity: Hydrolysis of (1->6)-alpha-D-glucosidic branch linkages in glycogen phosphorylase limit
    dextrin

         Genatlas biochemistry entry for AGL:
    amylo-1,6-glucosidase (4-alpha-glucantransferase),debranching enzyme,160kDa,glycogen catabolism) with liver,muscle
    specific and four further minor alternatively spliced isoforms

         Gene Ontology (GO): Selected molecular function terms (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003824catalytic activity ----
    GO:0004133glycogen debranching enzyme activity TAS1374391
    GO:00041344-alpha-glucanotransferase activity IBA--
    GO:0004135amylo-alpha-1,6-glucosidase activity IBA--
    GO:0005515protein binding IPI17908927
         
    AGL for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for AGL:
     Decreased DCP1a protein expres 

         1 MGI phenotypic allele for Agl (no phenotypes)

    AGL for phenotypes           About GeneDecksing

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for AGL
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for AGL

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for AGL
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for AGL

    miRNA
    Products:
        
    miRTarBase miRNAs that target AGL:
    hsa-mir-215-5p (MIRT024894), hsa-let-7b-5p (MIRT032209), hsa-mir-26b-5p (MIRT028934), hsa-mir-191-5p (MIRT045794), hsa-mir-484 (MIRT041710), hsa-mir-455-3p (MIRT037850), hsa-mir-192-5p (MIRT026198), hsa-mir-155-5p (MIRT020541)

    Block miRNA regulation of human, mouse, rat AGL using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate AGL (see all 10):
    hsa-miR-218-2* hsa-miR-513a-3p hsa-miR-876-5p hsa-miR-1179 hsa-miR-1248 hsa-miR-3167 hsa-miR-155 hsa-miR-532-5p
    SwitchGear 3'UTR luciferase reporter plasmidAGL 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for AGL
    Predesigned siRNA for gene silencing in human, mouse, rat AGL

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for AGL

    Clone
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    OriGene clones in human, mouse for AGL (see all 34)
    OriGene ORF clones in mouse, rat for AGL
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 6): AGL (NM_000028)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for AGL
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat AGL

    Cell Line
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    Browse ESI BIO Cell Lines and PureStem Progenitors for AGL 
    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for AGL


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    GDE_HUMAN, P35573: Cytoplasm. Note=Under glycogenolytic conditions localizes to the nucleus
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytosol4
    nucleus4
    endoplasmic reticulum2
    extracellular1

    Gene Ontology (GO): Selected cellular component terms (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA--
    GO:0005730NOT nucleolus IDA--
    GO:0005737cytoplasm IDA--
    GO:0005829cytosol TAS--
    GO:0016234inclusion body IEA--

    AGL for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for AGL About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Glucuronidation
    Starch and sucrose metabolism0.41
    Glycogen metabolism0.00
    2Metabolism
    Metabolism0.38
    Metabolic pathways0.38
    3Glucose metabolism
    Glucose metabolism0.44
    Glycogen breakdown (glycogenolysis)0.00
    4MPS VI - Maroteaux-Lamy syndrome
    Metabolism of carbohydrates0.45
    5Glycogen Metabolism
    Glycogen Metabolism

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 GeneGo (Thomson Reuters) Pathway for AGL
        Glycogen metabolism

    1 BioSystems Pathway for AGL
        Glycogen Metabolism

    1 Reactome Pathway for AGL
        Glycogen breakdown (glycogenolysis)


    2 Kegg Pathways  (Kegg details for AGL):
        Starch and sucrose metabolism
    Metabolic pathways


    AGL for pathways           About GeneDecksing

        Pathway & Disease-focused RT2 Profiler PCR Array including AGL: 
              Glucose Metabolism in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for AGL

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for AGL (P355733 ENSP000002947244) via UniProtKB, MINT, STRING, and/or I2D (see all 134)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ENSG00000231502Q9Y3333, ENSP000004033454I2D: score=3 STRING: ENSP00000403345
    ENSG00000236826Q9Y3333, ENSP000004146344I2D: score=3 STRING: ENSP00000414634
    LSM2Q9Y3333, ENSP000003648134I2D: score=3 STRING: ENSP00000364813
    ENSG00000172850Q9Y3333, ENSP000003728834I2D: score=3 STRING: ENSP00000372883
    ENSG00000224979Q9Y3333, ENSP000004140064I2D: score=3 STRING: ENSP00000414006
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 9):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005975carbohydrate metabolic process TAS--
    GO:0005977glycogen metabolic process ----
    GO:0005978glycogen biosynthetic process IEA--
    GO:0005980glycogen catabolic process TAS--
    GO:0006006glucose metabolic process TAS--

    AGL for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Compounds for AGL available from Tocris Bioscience    About this table
    CompoundAction CAS #
    KifunensineInhibitor of class I alpha-mannosidases[109944-15-2]
    1-DeoxynojirimycinGlucosidase I and II inhibitor[19130-96-2]
    1-Deoxymannojirimycin hydrochloridealpha-Mannosidase I inhibitor[73465-43-7]
    Miglitolalpha-glucosidase inhibitor[72432-03-2]
    OGT 2115Antiangiogenic. Heparanase inhibitor[853929-59-6]

    7 HMDB Compounds for AGL    About this table
    CompoundSynonyms CAS #PubMed Ids
    Alpha-D-GlucoseHexopyranose (see all 11)492-62-6--
    Amylose4-{(1,4)-alpha-D-Glucosyl}(n-1)-D-glucose (see all 12)9005-82-7--
    D-Glucose(+)-Glucose (see all 23)50-99-7--
    D-Maltosealpha-Malt sugar (see all 40)69-79-4--
    DextrinCaloreen (see all 10)9004-53-9--
    GlycogenAnimal starch (see all 5)9005-79-2--
    WaterDihydrogen oxide (see all 2)7732-18-5--

    7 Novoseek inferred chemical compound relationships for AGL gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    glycogen 86.2 224 19951495 (5), 9584265 (4), 19299494 (3), 8954797 (3) (see all 55)
    icodextrin 71.4 2 16567418 (1), 17196294 (1)
    starch 47 4 19884781 (1), 1499031 (1), 19428473 (1), 18499663 (1)
    glucose 19.5 2 8611536 (1), 1991122 (1)
    fluoride 15.2 1 1991122 (1)
    creatinine 13.4 1 15199064 (1)
    lactate 10 1 1293383 (1)



    AGL for compounds           About GeneDecksing



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for AGL gene (6 alternative transcripts): 
    NM_000028.2  NM_000642.2  NM_000643.2  NM_000644.2  NM_000645.2  NM_000646.2  

    Unigene Cluster for AGL:

    Amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase
    Hs.904  [show with all ESTs]
    Unigene Representative Sequence: NM_000028
    8 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000361915(uc001dsi.1) ENST00000370165(uc001dsl.1) ENST00000370163(uc001dsk.1)
    ENST00000294724(uc001dsj.1) ENST00000361302(uc001dsm.1) ENST00000361522(uc001dsn.1)
    ENST00000477753 ENST00000370161
    miRNA
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    Block miRNA regulation of human, mouse, rat AGL using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate AGL (see all 10):
    hsa-miR-218-2* hsa-miR-513a-3p hsa-miR-876-5p hsa-miR-1179 hsa-miR-1248 hsa-miR-3167 hsa-miR-155 hsa-miR-532-5p
    SwitchGear 3'UTR luciferase reporter plasmidAGL 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat AGL
    Clone
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    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 6): AGL (NM_000028)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for AGL
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat AGL
    Primer
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    OriGene qPCR primer pairs and template standards for AGL
    OriGene qSTAR qPCR primer pairs in human, mouse for AGL
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat AGL
      QuantiTect SYBR Green Assays in human, mouse, rat AGL
      QuantiFast Probe-based Assays in human, mouse, rat AGL

    Additional mRNA sequence: 

    AB208867.1 AB621804.1 AK130308.1 BC020705.1 BC057220.1 BC078663.1 M85168.1 U84007.1 
    U84008.1 U84009.1 U84010.1 U84011.1 

    8 DOTS entries:

    DT.95276494  DT.92430323  DT.100793896  DT.92430324  DT.444749  DT.100025294  DT.100793897  DT.121379454 

    Selected AceView cDNA sequences (see all 170):

    BU595048 BX500784 BX482459 AI439128 AL700198 BX092786 BQ217878 AV682868 
    BX499961 CA390727 BQ962659 CA945170 BC078663 AK130308 AU116995 AW182611 
    AL596579 AL597963 BQ045144 C05605 BQ022584 AA476828 CF147446 BM999394 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for AGL (see all 8)    About this scheme

    ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6a · 6b ^ 7a · 7b ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13a · 13b ^ 14 ^ 15a · 15b ^ 16a · 16b ^ 17a · 17b · 17c ^ 18 ^ 19 ^
    SP1:                                                                                                                                                            
    SP2:              -                                                                                                                                             
    SP3:                                                                                                                                                            
    SP4:                                                                                                                                                            
    SP5:        -     -                                                                                                                                             

    ExUns: 20 ^ 21 ^ 22
    SP1:                  
    SP2:                  
    SP3:                  
    SP4:                  
    SP5:                  


    ECgene alternative splicing isoforms for AGL

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

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    AGL expression in normal human tissues (normalized intensities)      AGL embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TGAATTGTGA
    AGL Expression
    About this image


    AGL expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 5) fully expand
     
     Neural Tube (Nervous System)    fully expand to see all 2 entries
             Metencephalon
     
     Brain (Nervous System)    fully expand to see all 2 entries
             Cerebral Cortex
     
     Gut Tube (Gastrointestinal Tract)
             Foregut
     
     NULL (Uncategorized)
             Definitive endoderm-like cells
     
     Eye (Sensory Organs)
             Lens
    AGL Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    AGL Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.904

    UniProtKB/Swiss-Prot: GDE_HUMAN, P35573
    Tissue specificity: Liver, kidney and lymphoblastoid cells express predominantly isoform 1; whereas muscle and
    heart express not only isoform 1, but also muscle-specific isoform mRNAs (isoforms 2, 3 and 4). Isoforms 5 and 6
    are present in both liver and muscle

        Pathway & Disease-focused RT2 Profiler PCR Array including AGL: 
              Glucose Metabolism in human mouse rat

    Primer
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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of animals and fungi.

    Orthologs for AGL gene from Selected species (see all 21)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Agl1 , 5 amylo-1,6-glucosidase, 4-alpha-glucanotransferase1, 5 86.16(n)1
    91.91(a)1
      3 (50.47 cM)5
    775591  NM_001081326.11  NP_001074795.11 
     1167430515 
    chicken
    (Gallus gallus)
    Aves AGL6
    amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotrans...
    82(a)
    1 ↔ 1
    8(11017203-11051067)
    lizard
    (Anolis carolinensis)
    Reptilia AGL6
    amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotrans...
    81(a)
    1 ↔ 1
    4(93381587-93447199)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.222182 Xenopus laevis transcribed sequence with moderate similarity more 76.08(n)    48034478 
    zebrafish
    (Danio rerio)
    Actinopterygii BM573587.12   -- 73.79(n)    BM573587.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG94851 , 3 4-alpha-glucanotransferase3
    CG94851
    48(a)3
    52.02(n)1
    48.86(a)1
      57D113
    374351  NM_166444.11  NP_726062.21 
    worm
    (Caenorhabditis elegans)
    Secernentea R06A4.83
    agl-11
    Alpha amylase3
    agl-11
    43(a)3
    50.93(n)1
    46.11(a)1
      II(14346529-14353182)3
    1750911  NM_064583.51  NP_496984.11 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes GDB1(YPR184W)4
    GDB11
    Glycogen debranching enzyme containing glucanotranferase more4
    GDB11
    51.61(n)1
    44.15(a)1
      16(902044-906654)4
    8563141, 4  NP_015510.11, 4 


    ENSEMBL Gene Tree for AGL (if available)
    TreeFam Gene Tree for AGL (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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      --

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for AGL (see all 1738)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 1 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0092314
    Glycogen storage disease 3 (GSD3)4--see VAR_0092312 G R mis40--------
    rs1139941261,2
    Cpathogenic1100316614(+) GTAAAC/TAGATT 9 Q * stg1 ut510--------
    rs1139941281,2
    Cpathogenic1100340950(+) ATGAAC/TGACTG 12 R * stg10--------
    rs1139941291,2
    Cpathogenic1100346885(+) TAAGTA/GGAATC 12 * W stg10--------
    rs1413093291,2
    --100313692(+) GATCTA/GGGTTC 1 -- us2k10--------
    rs1447265501,2
    C--100313770(+) AGGCAC/TGTGCC 1 -- us2k10--------
    rs1386804491,2
    --100313910(+) TGGAGA/TCATCC 1 -- us2k10--------
    rs1924555491,2
    --100313952(+) CTATCC/TTCAAA 1 -- us2k10--------
    rs1417897301,2
    --100314011(+) CATCAC/GCCCCA 1 -- us2k10--------
    rs1845346311,2
    --100314024(+) CCCCCA/GACACA 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for AGL (100315640 - 100389579 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 8 variations for AGL:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2655277CNV Deletion19546169
    esv268327CNV Insertion20981092
    nsv523220CNV Loss19592680
    dgv274n71CNV Loss21882294
    nsv428146CNV Gain18775914
    nsv871116CNV Gain21882294
    nsv526047CNV Gain19592680
    dgv73e1CNV Complex17122850

    Human Gene Mutation Database (HGMD): AGL
    Site Specific Mutation Identification with PCR Assays
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    DNA2.0 Custom Variant and Variant Library Synthesis for AGL

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 610860   
    OMIM disorders: 232400  
    UniProtKB/Swiss-Prot: GDE_HUMAN, P35573
  • Glycogen storage disease 3 (GSD3) [MIM:232400]: A metabolic disorder associated with an accumulation of
    abnormal glycogen with short outer chains. It is clinically characterized by hepatomegaly, hypoglycemia, short
    stature, and variable myopathy. Glycogen storage disease type 3 includes different forms: GSD type 3A patients
    lack glycogen debrancher enzyme activity in both liver and muscle, while GSD type 3B patients are
    enzyme-deficient in liver only. In rare cases, selective loss of only 1 of the 2 debranching activities,
    glucosidase or transferase, results in GSD type 3C or type 3D, respectively. Note=The disease is caused by
    mutations affecting the gene represented in this entry

  • Selected diseases for AGL (see all 22):    About MalaCards
    glycogen storage disease iiib    glycogen storage disease iiia    glycogen storage disease iii    finger agnosia
    cat-scratch disease    glycogen storage disease    glycogen storage disease type 0    agnosia
    hypoglycemia    autosomal recessive disease    short stature    liver cirrhosis
    hypertrophic cardiomyopathy    myopathy    bipolar disorder    asthma
    hepatocellular carcinoma    hepatitis    multiple myeloma    myeloma

    4 diseases from the University of Copenhagen DISEASES database for AGL:
    Glycogen storage disease     Finger agnosia     Autosomal recessive disease     Hypoglycemia

    AGL for disorders           About GeneDecksing

    10 Novoseek inferred disease relationships for AGL gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    glycogen storage disease type iii 98.9 69 15542399 (2), 16705713 (2), 1293383 (2), 19299494 (2) (see all 35)
    glycogen storage disease 89.6 10 11378828 (1), 9584265 (1), 17196294 (1), 10982190 (1) (see all 8)
    hepatomegaly 67.2 8 8990006 (1), 18717245 (1), 19951495 (1), 17895567 (1)
    enzyme deficiency 63.3 1 9332391 (1)
    hypoglycemia 61.9 8 8990006 (1), 18717245 (1), 19951495 (1), 17895567 (1)
    myopathy 53.6 1 1580445 (1)
    hyperlipidemia 51.2 3 19951495 (1)
    cardiomyopathy 45.7 4 17895567 (2), 1580445 (1), 18717245 (1)
    short stature 37.2 3 19951495 (1)
    liver cirrhosis 24.6 1 8553356 (1)

    Genetic Association Database (GAD): AGL
    Human Genome Epidemiology (HuGE) Navigator: AGL (3 documents)

    Export disorders for AGL gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for AGL gene, integrated from 10 sources (see all 95):
    (articles sorted by number of sources associating them with AGL)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Mutations in exon 3 of the glycogen debranching enzyme gene are associated with glycogen storage disease type III that is differentially expressed in liver and muscle. (PubMed id 8755644)1, 4, 9 Shen J....Chen Y.T. (J. Clin. Invest. 1996)
    2. Human glycogen debranching enzyme gene (AGL): complete structural organization and characterization of the 5' flanking region. (PubMed id 8954797)1, 2, 9 Bao Y.... Chen Y.-T. (Genomics 1996)
    3. Isolation and nucleotide sequence of human liver glycogen debranching enzyme mRNA: identification of multiple tissue-specific isoforms. (PubMed id 9332391)1, 2, 9 Bao Y.... Chen Y.-T. (Gene 1997)
    4. A nonsense mutation due to a single base insertion in the 3'-coding region of glycogen debranching enzyme gene associated with a severe phenotype in a patient with glycogen storage disease type IIIa. (PubMed id 8990006)1, 4, 9 Shen J....Chen Y.T. (Hum. Mutat. 1997)
    5. Molecular genetic basis and prevalence of glycogen storage disease type IIIA in the Faroe Islands. (PubMed id 11378828)1, 4, 9 Santer R....Schaub J. (Eur. J. Hum. Genet. 2001)
    6. Heterogeneous mutations in the glycogen-debranching enzyme gene are responsible for glycogen storage disease type IIIa in Japan. (PubMed id 10982190)1, 2, 9 Okubo M.... Murase T. (Hum. Genet. 2000)
    7. A novel donor splice site mutation in the glycogen debranching enzyme gene is associated with glycogen storage disease type III. (PubMed id 8702417)1, 4, 9 Okubo M....Murase T. (Biochem. Biophys. Res. Commun. 1996)
    8. Assignment of the human glycogen debrancher gene to chromosome 1p21. (PubMed id 1505983)1, 3, 9 Yang-Feng T.L....Kao F.T. (Genomics 1992)
    9. Genome-wide association study of lung function decline in adults with and without asthma. (PubMed id 22424883)1, 4 Imboden M....Probst-Hensch N.M. (J. Allergy Clin. Immunol. 2012)
    10. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (Mol. Med. 2010)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 178 HGNC: 321 AceView: AGL Ensembl:ENSG00000162688 euGenes: HUgn178
    ECgene: AGL Kegg: 178 H-InvDB: AGL

    (According to HUGE)
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    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for AGL Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=AGL[genesymbol]

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for AGL gene:
    Search GeneIP for patents involving AGL

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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